Variant report

Variant	nsv508304
Chromosome Location	chr1:75838772-75857426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:75820905..75823291-chr1:75839784..75841753,2	K562	blood:
2	chr1:75837137..75838827-chr1:75839642..75842194,2	K562	blood:
3	chr1:75837137..75838827-chr1:75839642..75842194,2	K562	blood:
4	chr1:75826578..75828663-chr1:75838109..75841105,2	K562	blood:

Extended variants
information (count: 179 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535778035	chr1:75838774-75838775	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543196838	chr1:75838827-75838828	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561427328	chr1:75838863-75838864	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182051332	chr1:75838892-75838893	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2137407	chr1:75838923-75838924	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs376280164	chr1:75838980-75838981	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76814371	chr1:75838988-75838989	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535455614	chr1:75838989-75838990	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377363277	chr1:75839020-75839021	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs75619327	chr1:75839113-75839114	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs1249808	chr1:75839145-75839146	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs114745247	chr1:75839149-75839150	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149346227	chr1:75839206-75839207	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144853989	chr1:75839207-75839208	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs1614816	chr1:75839298-75839299	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs1249807	chr1:75839320-75839321	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs549054230	chr1:75839355-75839356	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs114803472	chr1:75839369-75839370	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs556720658	chr1:75839424-75839425	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs117612317	chr1:75839436-75839437	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs187001247	chr1:75839443-75839444	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs554727187	chr1:75839518-75839519	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs577112514	chr1:75839522-75839523	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs573440063	chr1:75839619-75839620	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs540857345	chr1:75839652-75839653	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546485944	chr1:75839774-75839775	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs374261438	chr1:75839787-75839788	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs35060070	chr1:75839789-75839790	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532736273	chr1:75839816-75839817	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs74930689	chr1:75839834-75839835	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs562694799	chr1:75839835-75839836	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs139755627	chr1:75839843-75839844	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs79127231	chr1:75839855-75839856	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs371977733	chr1:75839866-75839867	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs79328738	chr1:75839897-75839898	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs528247519	chr1:75839952-75839953	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs531956104	chr1:75839980-75839981	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs542954228	chr1:75840000-75840001	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs571507056	chr1:75840053-75840054	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs191389460	chr1:75840095-75840096	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs550854306	chr1:75840104-75840105	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs530429610	chr1:75840120-75840121	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs568731683	chr1:75840148-75840149	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12411159	chr1:75840172-75840173	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs112437297	chr1:75840206-75840207	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs1249806	chr1:75840212-75840213	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs371354340	chr1:75840220-75840221	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534384392	chr1:75840229-75840230	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs559155864	chr1:75840236-75840237	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs1249805	chr1:75840267-75840268	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75831200-75841000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:75831400-75841400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:75833400-75839200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:75833400-75839200	Weak transcription	K562	blood
5	chr1:75833400-75841000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:75833600-75839200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:75833600-75841200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:75836800-75841200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:75837400-75840200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:75837800-75841600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:75838000-75839200	Enhancers	HepG2	liver
12	chr1:75838200-75840600	Weak transcription	NHEK	skin
13	chr1:75838200-75841800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:75838400-75839000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:75838400-75839800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:75838400-75840400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:75839000-75839800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:75839000-75840400	Enhancers	Placenta	Placenta
19	chr1:75839200-75839800	Enhancers	K562	blood
20	chr1:75839200-75840200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:75839200-75840400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:75839200-75840400	Flanking Active TSS	HepG2	liver
23	chr1:75839400-75839800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr1:75839400-75840600	Enhancers	Primary B cells from peripheral blood	blood
25	chr1:75839800-75840000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:75839800-75840000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr1:75839800-75840200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr1:75839800-75840600	Flanking Active TSS	K562	blood
29	chr1:75840000-75840400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr1:75840000-75841000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:75840000-75841800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:75840200-75840600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:75840200-75840600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:75840200-75841000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:75840400-75840600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr1:75840400-75841000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:75840400-75841200	Weak transcription	Placenta	Placenta
38	chr1:75840400-75841600	Active TSS	HepG2	liver
39	chr1:75840600-75840800	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr1:75840600-75840800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:75840600-75841000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:75840600-75841600	Active TSS	K562	blood
43	chr1:75840600-75841600	Active TSS	NHEK	skin
44	chr1:75840600-75842000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:75840800-75841000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:75840800-75841200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr1:75841000-75841200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:75841000-75841400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:75841000-75841600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr1:75841000-75841600	Active TSS	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links